Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013595
Disease: Eczema
Eczema
0.100 CausalMutation disease CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910 2016
CUI: C0013595
Disease: Eczema
Eczema
0.100 CausalMutation disease CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
CUI: C0013595
Disease: Eczema
Eczema
0.100 CausalMutation disease CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
CUI: C0013595
Disease: Eczema
Eczema
0.100 CausalMutation disease CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012